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https://www.readbyqxmd.com/read/29130289/development-and-pilot-testing-of-a-parent-reported-health-related-quality-of-life-measure-for-children-on-the-ketogenic-diet-the-ketoqol
#1
Katie Barwick, Tamara Parker, Nicole Murphy, Alwyn Todd, Michael Leveritt, Shelley A Wilkinson
AIM: The aim of the present study was to develop a parent-reported tool that will measure health-related quality of life (HRQoL) in children following ketogenic diet (KD) therapies for refractory epilepsy once it has been pilot tested and analysed. METHODS: Parents of children following KD therapies for epilepsy were recruited through a public hospital in Queensland, Australia, in 2012 and 2014. Qualitative semistructured interviews were conducted in 2012 with 13 parents who described changes seen in their child's HRQoL while on the KD...
November 2017: Nutrition & Dietetics: the Journal of the Dietitians Association of Australia
https://www.readbyqxmd.com/read/29128679/early-onset-epileptic-encephalopathy-with-de-novo-scn8a-mutation
#2
Yangyang Xiao, Jie Xiong, Ding'an Mao, Lingjuan Liu, Jian Li, Xingfang Li, Haiyan Luo, Liqun Liu
Early-onset epileptic encephalopathies (EOEEs) are clinically and genetically heterogeneous disorders characterized by intractable seizures and unremitting interictal paroxysmal epileptiform activity. Consequently, these syndromes impair neurodevelopment during the first year of life. Currently, the etiology of these disorders is largely unknown. In this study, Childhood-Onset Epilepsy Gene Panel Testing (containing 511 epilepsy-related genes) was performed in a parent-offspring trio. In this family, the son had refractory seizures, intellectual disability, and motor abnormalities, and he was diagnosed with EOEE...
October 28, 2017: Epilepsy Research
https://www.readbyqxmd.com/read/29126048/lennox-gastaut-syndrome-in-adulthood-long-term-clinical-follow-up-of-38-patients-and-analysis-of-their-recorded-seizures
#3
Aglaia Vignoli, Gaia Oggioni, Giovanni De Maria, Angela Peron, Miriam Nella Savini, Elena Zambrelli, Valentina Chiesa, Francesca La Briola, Katherine Turner, Maria Paola Canevini
Lennox-Gastaut syndrome (LGS) is a severe epileptic encephalopathy with childhood onset that usually continues through adolescence and into adulthood. In the long term, patients with this condition still have intractable seizures, intellectual disability, behavioral problems, and physical comorbidities. The aim of this study was to describe the clinical and EEG characteristics of a group of adults with Lennox-Gastaut syndrome. We identified 38 (22 females, 16 males) patients with LGS older than age 18years at their last evaluation, with mean age of 43...
November 7, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/29116485/prevalence-risk-factors-and-response-to-treatment-for-hypersomnia-of-central-origin-in-survivors-of-childhood-brain-tumors
#4
Raja B Khan, Thomas E Merchant, Zsila S Sadighi, Mercedes S Bello, Zhaohua Lu, April Sykes, Merrill S Wise, Valerie M Crabtree, Jennifer Zabrowski, Andrea Simmons, Mary E Clark, Belinda N Mandrell
Daytime sleepiness is recognized in childhood brain tumor survivors. Our objective was to determine prevalence, risk factors for PSG/MLST proven hypersomnia/narcolepsy, and response to stimulants in childhood brain tumor survivors. Standard PSG/MSLT criteria were used to diagnose hypersomnia/narcolepsy. Medical records of brain tumor survivors having undergone a PSG/MSLT were reviewed for the diagnostic code of hypersomnia/narcolepsy. Survivors with hypersomnia/narcolepsy were matched with 2-3 survivors without reported hypersomnia/narcolepsy by age at tumor diagnosis, gender, and time from tumor diagnosis...
November 8, 2017: Journal of Neuro-oncology
https://www.readbyqxmd.com/read/29108750/new-spectrum-of-the-neurologic-consequences-of-zika
#5
EDITORIAL
Marco T Medina, Marco Medina-Montoya
Zika virus infection represents a new neuropathological agent with association to a wide spectrum of neurological complications: a) Congenital Zika Syndrome by affecting the neural stem cells of the human fetal brain; b) Guillain-Barré Syndrome by an autoimmune response against peripheral myelin and/or axonal components or probable direct inflammatory reaction; c) Encephalitis/meningoencephalitis and myelitis by a direct viral inflammatory process on the central nervous system; d) Sensory neuropathy by infecting directly the peripheral neurons and causing substantial cell death and pathogenic transcriptional dysregulation; e) Acute Disseminated Encephalomyelitis and optic neuropathy; f) Seizures and Epilepsy and g) childhood arterial ischemic stroke by probable inflammatory reaction and endothelial injury...
November 1, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/29106865/benign-rolandic-epilepsy-presenting-like-paradoxical-vocal-fold-motion
#6
Jennifer H Gross, Mary Bertrand, Keiko Hirose
Paradoxical vocal fold motion (PVFM) is characterized by vocal fold adduction during respiration. Benign Rolandic epilepsy (BRE) is the most common childhood epilepsy and can cause oropharyngolaryngeal or facial manifestations. A 9-year-old male presented with intermittent apnea lasting 30-60 seconds and presumed PVFM. The patient's physical and fiberoptic exam were normal. He was admitted and found to have episodes of oxygen desaturation, neck twitching, and tongue burning. An EEG revealed focal epilepsy. After starting anti-epileptic medications, he had resolution of symptoms...
November 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/29106684/frontal-lobe-epilepsy-surgery-in-childhood-and-adolescence-predictors-of-long-term-seizure-freedom-overall-cognitive-and-adaptive-functioning
#7
Georgia Ramantani, Navah Ester Kadish, Hans Mayer, Constantin Anastasopoulos, Kathrin Wagner, Gitta Reuner, Karl Strobl, Susanne Schubert-Bast, Gert Wiegand, Armin Brandt, Rudolf Korinthenberg, Irina Mader, Vera van Velthoven, Josef Zentner, Andreas Schulze-Bonhage, Thomas Bast
BACKGROUND: Although frontal lobe resections account for one-third of intralobar resections in pediatric epilepsy surgery, there is a dearth of information regarding long-term seizure freedom, overall cognitive and adaptive functioning. OBJECTIVE: To identify outcome predictors and define the appropriate timing for surgery. METHODS: We retrospectively analyzed the data of 75 consecutive patients aged 10.0 ± 4.9 yr at surgery that had an 8...
July 5, 2017: Neurosurgery
https://www.readbyqxmd.com/read/29095389/paroxysmal-tonic-upgaze-in-children-three-case-reports-and-a-review-of-the-literature
#8
Ayse Kartal
BACKGROUND: In clinical practice, nonepileptic paroxysmal events during infancy and childhood are common reasons for parents and caregivers to seek for medical advice. These events are mostly unrecognized and considered as an epileptic seizure because of the clinical features resembling an epileptic seizure. Paroxysmal tonic upgaze, which consists of recurrent episodes of sustained upward deviation of the eyes and incomplete downward saccades, and normal horizontal eye movements without impairment of consciousness, is a diagnostic challenge for the pediatrician and pediatric neurologist...
October 31, 2017: Pediatric Emergency Care
https://www.readbyqxmd.com/read/29064616/gain-of-function-hcn2-variants-in-genetic-epilepsy
#9
Melody Li, Snezana Maljevic, A Marie Phillips, Slave Petrovski, Michael Hildebrand, Rosemary Burgess, Therese Mount, Federico Zara, Pasquale Striano, Julian Schubert, Holger Thiele, Peter Nürnberg, Michael Wong, Judith L Weisenberg, Liu Lin Thio, Holger Lerche, Ingrid E Scheffer, Samuel F Berkovic, Steven Petrou, Christopher A Reid
Genetic generalized epilepsy (GGE) is a common epilepsy syndrome that encompasses seizure disorders characterized by spike-and-wave discharges (SWDs). Pacemaker hyperpolarization-activated cyclic nucleotide-gated channels (HCN) are considered integral to SWD genesis, making them an ideal gene candidate for GGE. We identified HCN2 missense variants from a large cohort of 585 GGE patients, recruited by the Epilepsy Phenome-Genome Project (EPGP), and performed functional analysis using two-electrode voltage clamp recordings from Xenopus oocytes...
October 24, 2017: Human Mutation
https://www.readbyqxmd.com/read/29062689/occipital-dysembryoplastic-neuroepithelial-tumor-presenting-as-adult-onset-temporal-epilepsy
#10
Riddhi Patira, Cody Nathan, Sarah Zubkov, Camilo Gutierrez, Charles Munyon, Abir Mukherjee, Mercedes Jacobson
Dysembryoplastic neuroepithelial tumor (DNET) is a benign brain tumor which commonly presents as childhood-onset temporal lobe epilepsy (TLE). We present a case of histologically proven DNET with a clinical presentation and scalp EEG suggestive of adult-onset TLE. MRI showed an occipital lesion. PET showed abnormal metabolism of the occipital lesion and the ipsilateral temporal lobe; raising concern for an abnormal functional network reorganization. Intracranial EEG showed interictal spikes and seizures originating from the occipital lesion with no seizures emanating from the temporal lobe...
2017: Epilepsy & Behavior Case Reports
https://www.readbyqxmd.com/read/29055263/sub-cortical-brain-morphometry-and-its-relationship-with-cognition-in-rolandic-epilepsy
#11
Mahsa Shakeri, Alexandre N Datta, Domitille Malfait, Nadine Oser, Laurent Létourneau-Guillon, Philippe Major, Myriam Srour, Alan Tucholka, Samuel Kadoury, Sarah Lippé
PURPOSE: Rolandic epilepsy (RE), also called benign epilepsy with centrotemporal spikes (BECTS) is the most common childhood epilepsy syndrome. RE is associated with cognitive difficulties, which can affect children's quality of life. The underlying causes of these cognitive impairments are unclear. The objective of this prospective study is to investigate sub-cortical morphological alterations in RE children with left, right, or bilateral hemispheric focus and its association with cognition...
October 7, 2017: Epilepsy Research
https://www.readbyqxmd.com/read/29054051/the-incidence-and-risk-factors-of-epilepsy-in-children-born-preterm-a-nationwide-register-study
#12
Mikko Hirvonen, Riitta Ojala, Päivi Korhonen, Paula Haataja, Kai Eriksson, Mika Gissler, Tiina Luukkaala, Outi Tammela
OBJECTIVES: The aim was to compare the incidence of epilepsy between very preterm (VP) (<32(+0) weeks), moderately preterm (MP) (32(+0)-33(+6) weeks), late preterm (LP) (34(+0)-36(+6) weeks) and term infants (≥37 weeks) and to establish and compare risk factors of epilepsy in these groups. METHODS: The national register study included all live born infants in Finland in 1991-2008. Excluding infants with missing gestational age, a total of 1,033,349 infants were included in the analysis and they were analyzed in four subgroups (VP, MP, LP and term) and three time periods (1991-1995, 1996-2001 and 2002-2008)...
October 14, 2017: Epilepsy Research
https://www.readbyqxmd.com/read/29050398/delineating-sptan1-associated-phenotypes-from-isolated-epilepsy-to-encephalopathy-with-progressive-brain-atrophy
#13
Steffen Syrbe, Frederike L Harms, Elena Parrini, Martino Montomoli, Ulrike Mütze, Katherine L Helbig, Tilman Polster, Beate Albrecht, Ulrich Bernbeck, Ellen van Binsbergen, Saskia Biskup, Lydie Burglen, Jonas Denecke, Bénédicte Heron, Henrike O Heyne, Georg F Hoffmann, Frauke Hornemann, Takeshi Matsushige, Ryuki Matsuura, Mitsuhiro Kato, G Christoph Korenke, Alma Kuechler, Constanze Lämmer, Andreas Merkenschlager, Cyril Mignot, Susanne Ruf, Mitsuko Nakashima, Hirotomo Saitsu, Hannah Stamberger, Tiziana Pisano, Jun Tohyama, Sarah Weckhuysen, Wendy Werckx, Julia Wickert, Francesco Mari, Nienke E Verbeek, Rikke S Møller, Bobby Koeleman, Naomichi Matsumoto, William B Dobyns, Domenica Battaglia, Johannes R Lemke, Kerstin Kutsche, Renzo Guerrini
De novo in-frame deletions and duplications in the SPTAN1 gene, encoding the non-erythrocyte αII spectrin, have been associated with severe West syndrome with hypomyelination and pontocerebellar atrophy. We aimed at comprehensively delineating the phenotypic spectrum associated with SPTAN1 mutations. Using different molecular genetic techniques, we identified 20 patients with a pathogenic or likely pathogenic SPTAN1 variant and reviewed their clinical, genetic and imaging data. SPTAN1 de novo alterations included seven unique missense variants and nine in-frame deletions/duplications of which 12 were novel...
September 1, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29047147/case-control-pharmacogenetic-study-of-hcn1-hcn2-variants-and-genetic-generalized-epilepsies
#14
Shu-Zhi Wu, Hua Ye, Xiao-Guo Yang, Zhi-Li Lu, Qiang Qu, Jian Qu
Epilepsy is a common complex neurological disorder, and some forms are resistant to drug treatment. The HCN1/HCN2 genes encode hyperpolarization-activated cyclic nucleotide-gated channels, which play important roles in the electrophysiology of neurons. We investigated the association between HCN1/HCN2 variants and drug resistance or the risk of genetic generalized epilepsies (GGEs). We used matrix-assisted laser desorption/ionization time-of-flight mass spectrometry to assess nine variants of HCN1/HCN2 in 284 healthy participants and 483 GGEs (279 drug-responsive, 204 drug-resistant)...
October 19, 2017: Clinical and Experimental Pharmacology & Physiology
https://www.readbyqxmd.com/read/29046235/white-matter-integrity-correlates-with-depressive-symptomatology-in-temporal-lobe-epilepsy
#15
Brian Kavanaugh, Stephen Correia, Jacob Jones, Andrew Blum, W Curt LaFrance, Jennifer Duncan Davis
RATIONALE: White matter abnormalities occur in both temporal lobe epilepsy (TLE) and depression, but there is limited research examining the depression-white matter association in depressed individuals with TLE. This study examined the relationship between white matter integrity (WMI) and depression including the influence of age at seizure onset, in adults with TLE, TLE and depression, and depression only. METHODS: Thirty-one adults were in one of three groups: TLE without depression (TLE; n=11), TLE with depression (TLE+DEP; n=9), and depression without TLE (DEP; n=11)...
October 16, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/29045978/-clinicopathologic-features-of-infant-dysembryoplastic-neuroepithelial-tumor-a-case-report-and-literature-review
#16
H Wang, J T Ye, H X Yao, D Li, Y Dong
Dysembryoplastic neuroepithelial tumor (DNT) has traditionally been viewed as rare benign tumors that present with seizure widely considered curable with surgery alone. Most DNTs occur in childhood and young adults. However, rare reported cases occur in infants. This paper reported an infant case of DNT and its diagnosis, differential diagnosis, treatment, molecular features and prognosis based on the review of current literatures. The age onset of this patient was only 11 months old. The clinical manifestations were partial seizures and the imaging data untypical; CT and MRI were all supportive of astrocytoma...
October 18, 2017: Beijing da Xue Xue Bao. Yi Xue Ban, Journal of Peking University. Health Sciences
https://www.readbyqxmd.com/read/29042521/-transition-of-children-with-epilepsy-to-adult-care-current-status-and-challenge
#17
Hidemoto Kubota
Thirty percent of the patients consulting a pediatric neurologist have already reached adulthood as patients and their families do not like transfer to the adult clinics; moreover, there are no suitable clinics. Pediatric neurologists find it difficult to examine adult patients with childhood-onset epilepsy as they are unfamiliar with the psychiatric and psychological symptoms manifested in adulthood, and the common diseases of adulthood. On the other hand, adult neurologists have difficulty obtaining a complete picture of the patient's clinical history since childhood, and are unfamiliar with childhood-specific epilepsy syndrome...
October 2017: Brain and Nerve, Shinkei Kenkyū No Shinpo
https://www.readbyqxmd.com/read/29031192/growth-and-endocrine-function-in-children-with-dravet-syndrome
#18
Krista Eschbach, Sharon Scarbro, Elizabeth Juarez-Colunga, Victoria Allen, Stephanie Hsu, Kelly Knupp
PURPOSE: Dravet syndrome is an intractable childhood epilepsy syndrome most often associated with an SCN1A mutation. In our clinical practice, several patients with Dravet syndrome were noted to have short stature and endocrine dysfunction. This has not been reported in the literature. Our study aim was to describe growth measurements and endocrine abnormalities in children with Dravet syndrome. METHOD: A retrospective chart review was performed at a single institution...
September 29, 2017: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/28992996/attention-profiles-in-childhood-absence-epilepsy-compared-with-attention-deficit-hyperactivity-disorder
#19
Hyun-Jeong Lee, Eun-Hee Kim, Mi-Sun Yum, Tae-Sung Ko, Hyo-Won Kim
OBJECTIVE: This study aimed to compare the attention profiles of subjects with childhood absence epilepsy (CAE) to those of children with attention-deficit/hyperactivity disorder (ADHD) and controls. METHOD: We retrospectively reviewed the medical records of 20 children (age 7.2 ± 1.6 years, 5 boys) in whom CAE was diagnosed at the Department of Pediatric Neurology of Asan Medical Center, Seoul, Korea. ADHD and control subjects were selected from children who visited the Department of Pediatric Psychiatry and were confirmed as having or not having ADHD based on Diagnostic and Statistical Manual of Mental Disorders (DSM-IV) and the Schedule for Affective Disorders and Schizophrenia for School-Age Children-Present and Lifetime version (K-SADS-PL)...
October 6, 2017: Brain & Development
https://www.readbyqxmd.com/read/28988699/disruption-of-ankyrin-b-and-caveolin-1-interaction-sites-alters-na-k-atpase-membrane-diffusion
#20
Cornelia Junghans, Vladana Vukojević, Neslihan N Tavraz, Eugene G Maksimov, Werner Zuschratter, Franz-Josef Schmitt, Thomas Friedrich
The Na(+),K(+)-ATPase is a plasma membrane ion transporter of high physiological importance for ion homeostasis and cellular excitability in electrically active tissues. Mutations in the genes coding for Na(+),K(+)-ATPase α-subunit isoforms lead to severe human pathologies including Familial Hemiplegic Migraine type 2, Alternating Hemiplegia of Childhood, Rapid-onset Dystonia Parkinsonism, or epilepsy. Many of the reported mutations lead to change- or loss-of-function effects, whereas others do not alter the functional properties, but lead to, e...
October 5, 2017: Biophysical Journal
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